Works matching IS 10597794 AND DT 1999 AND VI 13 AND IP 1

Results: 19

Erratum: Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1).

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU11>3.0.CO;2-8

By:

Oetting, W.S.;
Fryer, J.P.;
King, R.A.

Publication type:

Article

Identification of 8 new mutations in Brazilian families with Marfan syndrome.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU15>3.0.CO;2-U

By:

Perez, Ana B.A.;
Pereira, Lygia V.;
Brunoni, Decio;
Zatz, Mayana;
Passos-Bueno, Maria Rita

Publication type:

Article

A g5580 T>C variant located between the two polyadenylation sites of the interleukin-11 (IL11) gene.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU19>3.0.CO;2-F

By:

Bienvenu, Thierry;
Hubert, Dominique;
Dusser, Daniel;
Beldjord, Cherif

Publication type:

Article

From gels to chips: 'Minisequencing' primer extension for analysis of point mutations and single nucleotide polymorphisms.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 1, doi. 10.1002/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-I

By:

Syvänen, Ann-Christine

Publication type:

Article

Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 44, doi. 10.1002/(SICI)1098-1004(1999)13:1<44::AID-HUMU5>3.0.CO;2-Q

By:

Rosipal, R.;
Lamoril, J.;
Puy, H.;
Da Silva, V.;
Gouya, L.;
De Rooij, F.W.M.;
Te Velde, K.;
Nordmann, Y.;
Martàsek, P.;
Deybach, J.C.

Publication type:

Article

A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 75, doi. 10.1002/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4

By:

al-Jandal, Najma;
Farrar, G. Jane;
Kiang, Anna-Sophia;
Humphries, Marian M.;
Bannon, Noreen;
Findlay, John B.C.;
Humphries, Peter;
Kenna, Paul F.

Publication type:

Article

Rogan PK, Faux BM, Schneider TD. 1998. Information analysis of human splice site mutations. Hum Mutat 12:153-171.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 82, doi. 10.1002/(SICI)1098-1004(1999)13:1<82::AID-HUMU10>3.0.CO;2-E

By:

Rogan, Peter K.;
Faux, Brian M.;
Schneider, Thomas D.

Publication type:

Article

Expansion of CTG repeat in myotonin protein kinase gene on Alu(ins)-Hinf1-1 background in a myotonic dystrophy patient from India.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 84, doi. 10.1002/(SICI)1098-1004(1999)13:1<84::AID-HUMU14>3.0.CO;2-X

By:

Basu, P.;
Gangopadhaya, P.K.;
Mukherjee, S.C.;
Sinha, K.K.;
Bhattacharyya, N.P.

Publication type:

Article

A novel missense mutation Ile59Asn in the PAX3 in family with Waardenburg syndrome type 1.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU18>3.0.CO;2-I

By:

Markova, T.G.;
Shevtsov, S.P.;
Moskolenko, L.N.;
Lantsov, A.A.;
Schwartz, E.I.

Publication type:

Article

Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 38, doi. 10.1002/(SICI)1098-1004(1999)13:1<38::AID-HUMU4>3.0.CO;2-S

By:

Furihata, Kenichi;
Drousiotou, Anthi;
Hara, Yoji;
Christopoulos, George;
Stylianidou, Goula;
Anastasiadou, Violetta;
Ueno, Ichiro;
Ioannou, Panos

Publication type:

Article

Mutation analyses of North American APS-1 patients.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6

By:

Heino, Maarit;
Scott, Hamish S.;
Chen, Qiaoyi;
Peterson, Pärt;
Mäenpää, Ulla;
Papasavvas, Marie-Pierre;
Mittaz, Laureane;
Barras, Christine;
Rossier, Colette;
Chrousos, George P.;
Stratakis, Constantine A.;
Nagamine, Kentaro;
Kudoh, Jun;
Shimizu, Nobuyoshi;
Maclaren, Noel;
Antonarakis, Stylianos E.;
Krohn, Kai

Publication type:

Article

Novel mutations in African American patients with glycogen storage disease type II.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU13>3.0.CO;2-2

By:

Raben, Nina;
Lee, Eunice;
Lee, Laura;
Hirschhorn, Rochelle;
Plotz, Paul H.

Publication type:

Article

A new L771L polymorphism in the BRCA1 gene frequently found in southern Italy.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU17>3.0.CO;2-L

By:

Baudi, Francesco;
Grandinetti, Cristina;
Quaresima, Barbara;
Tassone, PierFrancesco;
Barbieri, Vito;
Costanzo, Francesco;
Venuta, Salvatore

Publication type:

Article

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 11, doi. 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A

By:

Nelis, Eva;
Haites, Neva;
Van Broeckhoven, Christine

Publication type:

Article

Coincidence of two novel arylsulfatase a alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 61, doi. 10.1002/(SICI)1098-1004(1999)13:1<61::AID-HUMU7>3.0.CO;2-H

By:

Berger, Johannes;
Gmach, Marion;
Mayr, Udo;
Molzer, Brunhilde;
Bernheime, Hanno

Publication type:

Article

Severe autosomal dominant retinitis pigmentosa caused by a novel rhodopsin mutation (Ter349Glu).

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 83, doi. 10.1002/(SICI)1098-1004(1999)13:1<83::AID-HUMU12>3.0.CO;2-5

By:

Bessant, David A.R.;
Khaliq, Shagufta;
Hameed, Abdul;
Anwar, Khalid;
Payne, Annette M.;
Mehdi, S. Qasim;
Bhattacharya, Shomi S.

Publication type:

Article

Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 85, doi. 10.1002/(SICI)1098-1004(1999)13:1<85::AID-HUMU16>3.0.CO;2-O

By:

Jakubiczka, Sibylle;
Bettecken, Thomas;
Stumm, Markus;
Neulen, Josef;
Wieacker, Peter

Publication type:

Article

Molecular analysis of chronic granulomatous disease caused by defects in gp91- phox.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 29, doi. 10.1002/(SICI)1098-1004(1999)13:1<29::AID-HUMU3>3.0.CO;2-X

By:

Patiño, Pablo J.;
Perez, Juan E.;
Lopez, Juan A.;
Condino-Neto, Antonio;
Grumach, Anete S.;
Botero, Jorge H.;
Curnutte, John T.;
García de Olarte, Diana

Publication type:

Article

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

Published in:

Human Mutation, 1999, v. 13, n. 1, p. 54, doi. 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K

By:

Poncin, Jacques;
Abs, Roger;
Velkeniers, Brigitte;
Bonduelle, Maryse;
Abramowicz, Marc;
Legros, Jean-Jacques;
Verloes, Alain;
Meurisse, Michel;
Van Gaal, Luc;
Verellen, Christine;
Koulischer, Lucien;
Beckers, Albert

Publication type:

Article